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Homosistinurie: beskrywing van 'n geval
Abstract
Homocystinuria is an inborn error in the methionine metabolic pathway. It is due to an absence of the enzyme cystathionine synthesase and is inherited probably as a result of autosomal recessive transmission. It is characterized by a 'Marfan-like' appearance, ectopia lentis, a marked thrombo-embolic tendency and often mental retardation. Large quantities of methionine and homocystine are present in the blood, and homocystine in the urine. Treatment is not yet clear but a low-methionine diet with cystine supplementation started at an early age holds the most promise. A case of homocystinuria, probably the first in the Republic of South Africa, is described.
